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Gene: CAMSAP1 |
Gene summary for CAMSAP1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CAMSAP1 | Gene ID | 157922 |
| Gene name | calmodulin regulated spectrin associated protein 1 | |
| Gene Alias | CAMSAP1 | |
| Cytomap | 9q34.3 | |
| Gene Type | protein-coding | GO ID | GO:0000226 | UniProtAcc | Q5T5Y3 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 157922 | CAMSAP1 | CCI_1 | Human | Cervix | CC | 1.75e-02 | 4.98e-01 | 0.528 |
| 157922 | CAMSAP1 | CCI_2 | Human | Cervix | CC | 1.52e-09 | 1.19e+00 | 0.5249 |
| 157922 | CAMSAP1 | CCI_3 | Human | Cervix | CC | 3.52e-07 | 6.46e-01 | 0.516 |
| 157922 | CAMSAP1 | C04 | Human | Oral cavity | OSCC | 2.27e-03 | 1.40e-01 | 0.2633 |
| 157922 | CAMSAP1 | C21 | Human | Oral cavity | OSCC | 1.99e-07 | 2.93e-01 | 0.2678 |
| 157922 | CAMSAP1 | C30 | Human | Oral cavity | OSCC | 9.90e-21 | 8.54e-01 | 0.3055 |
| 157922 | CAMSAP1 | C38 | Human | Oral cavity | OSCC | 5.68e-03 | 3.64e-01 | 0.172 |
| 157922 | CAMSAP1 | C43 | Human | Oral cavity | OSCC | 2.88e-04 | 2.05e-01 | 0.1704 |
| 157922 | CAMSAP1 | C46 | Human | Oral cavity | OSCC | 4.47e-10 | 3.12e-01 | 0.1673 |
| 157922 | CAMSAP1 | C51 | Human | Oral cavity | OSCC | 1.68e-04 | 2.90e-01 | 0.2674 |
| 157922 | CAMSAP1 | C57 | Human | Oral cavity | OSCC | 4.38e-12 | 3.47e-01 | 0.1679 |
| 157922 | CAMSAP1 | C06 | Human | Oral cavity | OSCC | 7.34e-03 | 5.64e-01 | 0.2699 |
| 157922 | CAMSAP1 | C09 | Human | Oral cavity | OSCC | 2.31e-08 | 4.05e-01 | 0.1431 |
| 157922 | CAMSAP1 | LN22 | Human | Oral cavity | OSCC | 1.17e-06 | 8.43e-01 | 0.1733 |
| 157922 | CAMSAP1 | LN46 | Human | Oral cavity | OSCC | 6.12e-05 | 4.06e-01 | 0.1666 |
| 157922 | CAMSAP1 | SYSMH1 | Human | Oral cavity | OSCC | 1.71e-02 | 2.41e-01 | 0.1127 |
| 157922 | CAMSAP1 | SYSMH3 | Human | Oral cavity | OSCC | 5.81e-03 | 2.41e-01 | 0.2442 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Breast | Precancer |  |
| Breast | IDC |  |
| Breast | DCIS |  |
| Cervix | CC |  |
| Cervix | HSIL_HPV |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:002260410 | Cervix | CC | regulation of cell morphogenesis | 84/2311 | 309/18723 | 1.00e-12 | 4.29e-10 | 84 |
| GO:190290310 | Cervix | CC | regulation of supramolecular fiber organization | 92/2311 | 383/18723 | 1.49e-10 | 2.48e-08 | 92 |
| GO:004325410 | Cervix | CC | regulation of protein-containing complex assembly | 96/2311 | 428/18723 | 2.91e-09 | 3.05e-07 | 96 |
| GO:005125810 | Cervix | CC | protein polymerization | 70/2311 | 297/18723 | 5.20e-08 | 3.11e-06 | 70 |
| GO:003227110 | Cervix | CC | regulation of protein polymerization | 57/2311 | 233/18723 | 2.37e-07 | 1.03e-05 | 57 |
| GO:19029048 | Cervix | CC | negative regulation of supramolecular fiber organization | 40/2311 | 167/18723 | 2.39e-05 | 4.17e-04 | 40 |
| GO:002241110 | Cervix | CC | cellular component disassembly | 83/2311 | 443/18723 | 6.04e-05 | 8.68e-04 | 83 |
| GO:00106399 | Cervix | CC | negative regulation of organelle organization | 68/2311 | 348/18723 | 7.40e-05 | 1.03e-03 | 68 |
| GO:00514948 | Cervix | CC | negative regulation of cytoskeleton organization | 37/2311 | 163/18723 | 1.57e-04 | 1.88e-03 | 37 |
| GO:00705074 | Cervix | CC | regulation of microtubule cytoskeleton organization | 32/2311 | 148/18723 | 1.02e-03 | 8.51e-03 | 32 |
| GO:00311134 | Cervix | CC | regulation of microtubule polymerization | 15/2311 | 55/18723 | 2.14e-03 | 1.54e-02 | 15 |
| GO:00467853 | Cervix | CC | microtubule polymerization | 19/2311 | 83/18723 | 5.25e-03 | 3.08e-02 | 19 |
| GO:00329847 | Cervix | CC | protein-containing complex disassembly | 41/2311 | 224/18723 | 6.13e-03 | 3.48e-02 | 41 |
| GO:00311224 | Cervix | CC | cytoplasmic microtubule organization | 14/2311 | 56/18723 | 6.93e-03 | 3.74e-02 | 14 |
| GO:0031111 | Cervix | CC | negative regulation of microtubule polymerization or depolymerization | 11/2311 | 40/18723 | 7.54e-03 | 4.02e-02 | 11 |
| GO:00311101 | Cervix | CC | regulation of microtubule polymerization or depolymerization | 19/2311 | 88/18723 | 1.01e-02 | 4.91e-02 | 19 |
| GO:002241119 | Oral cavity | OSCC | cellular component disassembly | 283/7305 | 443/18723 | 9.57e-27 | 3.37e-24 | 283 |
| GO:004325420 | Oral cavity | OSCC | regulation of protein-containing complex assembly | 255/7305 | 428/18723 | 2.94e-18 | 3.15e-16 | 255 |
| GO:003298410 | Oral cavity | OSCC | protein-containing complex disassembly | 136/7305 | 224/18723 | 3.42e-11 | 1.13e-09 | 136 |
| GO:190290320 | Oral cavity | OSCC | regulation of supramolecular fiber organization | 211/7305 | 383/18723 | 9.45e-11 | 2.88e-09 | 211 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| CAMSAP1 | SNV | Missense_Mutation | c.3921N>T | p.Gln1307His | p.Q1307H | Q5T5Y3 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| CAMSAP1 | SNV | Missense_Mutation | rs371105586 | c.1522N>G | p.Ile508Val | p.I508V | Q5T5Y3 | protein_coding | tolerated(0.67) | benign(0.015) | TCGA-A2-A3XT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | PR |
| CAMSAP1 | SNV | Missense_Mutation | novel | c.3525N>A | p.Ser1175Arg | p.S1175R | Q5T5Y3 | protein_coding | tolerated(0.11) | possibly_damaging(0.677) | TCGA-A8-A08Z-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| CAMSAP1 | SNV | Missense_Mutation | rs754356280 | c.3575N>T | p.Ser1192Leu | p.S1192L | Q5T5Y3 | protein_coding | tolerated(0.06) | benign(0.003) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| CAMSAP1 | SNV | Missense_Mutation | c.2417N>A | p.Ser806Tyr | p.S806Y | Q5T5Y3 | protein_coding | deleterious(0) | possibly_damaging(0.642) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| CAMSAP1 | SNV | Missense_Mutation | c.1688N>T | p.Ser563Leu | p.S563L | Q5T5Y3 | protein_coding | tolerated(0.06) | benign(0.115) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| CAMSAP1 | SNV | Missense_Mutation | c.704N>T | p.Ser235Leu | p.S235L | Q5T5Y3 | protein_coding | tolerated(1) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| CAMSAP1 | SNV | Missense_Mutation | rs765690752 | c.307G>A | p.Ala103Thr | p.A103T | Q5T5Y3 | protein_coding | tolerated(0.28) | benign(0.006) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
| CAMSAP1 | SNV | Missense_Mutation | c.1732G>A | p.Gly578Arg | p.G578R | Q5T5Y3 | protein_coding | tolerated(0.58) | benign(0) | TCGA-B6-A0I9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | |
| CAMSAP1 | SNV | Missense_Mutation | c.1550N>T | p.Pro517Leu | p.P517L | Q5T5Y3 | protein_coding | tolerated(0.23) | benign(0.282) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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